A20S (p.Ala20Ser) variant of IDUA (Alpha-L-iduronidase)
A20S (p.Ala20Ser) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A20S (p.Ala20Ser) variant details
- p.Ala20Ser
- gnomAD rs1200710862
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- CADD 3.40
- PolyPhen-2 0.00
- SIFT 0.37
- Population evidence available
- Structural context available